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Myeloproliferative disorders

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https://www.readbyqxmd.com/read/28299663/runx1-and-cbf%C3%AE-mutations-and-activities-of-their-wild-type-alleles-in-aml
#1
R Katherine Hyde, Paul Liu, Alan D Friedman
Mutations in RUNX1 and CBFB have long been recognized as important in hematological malignancies. Point mutations and deletions of RUNX1 are frequently found in myelodysplastic syndrome, myeloproliferative disease, and acute myeloid leukemia. Germline mutations in RUNX1 are associated with familial platelet disorder with predisposition to AML. In addition, as will be discussed in other chapters, both RUNX1 and CBFB are involved in recurrent chromosomal rearrangements in leukemia. More recently, roles for the non-mutated RUNX1 and CBFB genes have been identified in multiple leukemia subtypes...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28297629/genomics-of-myeloproliferative-neoplasms
#2
Katerina Zoi, Nicholas C P Cross
Myeloproliferative neoplasms (MPNs) are a group of related clonal hematologic disorders characterized by excess accumulation of one or more myeloid cell lineages and a tendency to transform to acute myeloid leukemia. Deregulated JAK2 signaling has emerged as the central phenotypic driver of BCR -ABL1-negative MPNs and a unifying therapeutic target. In addition, MPNs show unexpected layers of genetic complexity, with multiple abnormalities associated with disease progression, interactions between inherited factors and phenotype driver mutations, and effects related to the order in which mutations are acquired...
March 20, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28286795/systemic-mastocytosis-complicated-by-non-cirrhotic-portal-hypertension-and-variceal-bleeding
#3
Thomas R McCarty, Adelina Hung, Arpan Mohanty, John I Allen
Systemic mastocytosis is a myeloproliferative disorder characterized by extracutaneous involvement of at least one organ. Although rare, infiltration of inflammatory mast cells within the portal vein may lead to obstruction of the sinusoids resulting in non-cirrhotic portal hypertension. We present a patient with known history of systemic mastocytosis with bone marrow involvement presenting with new-onset esophageal variceal bleeding. Although systemic mastocytosis is uncommon, the subsequent development of hepatic involvement and non-cirrhotic portal hypertension are discussed...
2017: ACG Case Reports Journal
https://www.readbyqxmd.com/read/28267084/monocyte-chemoattractant-protein-1-mcp-1-as-a-potential-therapeutic-target-and-a-noninvasive-biomarker-of-liver-fibrosis-associated-with-transient-myeloproliferative-disorder-in-down-syndrome
#4
Kenichiro Kobayashi, Takako Yoshioka, Jun Miyauchi, Atsuko Nakazawa, Shigeaki Yamazaki, Hiromi Ono, Michiko Tatsuno, Kenta Iijima, Chiaki Takahashi, Yoko Okada, Kenji Teranishi, Takaaki Matsunaga, Chieko Matsushima, Mayo Inagaki, Minoru Suehiro, Saori Suehiro, Masahiko Nishitani, Hirohito Kubota, Jun Iio, Yoshinobu Nishida, Tetsuo Katayama, Narito Takada, Kentaro Watanabe, Tetsuro Yamamoto, Ryoji Yasumizu, Kentaro Matsuoka, Kentaro Ohki, Nobutaka Kiyokawa, Toshiro Maihara, Ikuya Usami
Liver fibrosis is one of the common complications of transient myeloproliferative disorder (TMD) in Down syndrome (DS), but the exact molecular pathogenesis is largely unknown. We herein report a neonate of DS with liver fibrosis associated with TMD, in which we performed the serial profibrogenic cytokines analyses. We found the active monocyte chemoattractant protein-1 expression in the affected liver tissue and also found that both serum and urinary monocyte chemoattractant protein-1 concentrations are noninvasive biomarkers of liver fibrosis...
March 6, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28261298/fas-fasl-gene-polymorphisms-in-turkish-patients-with-chronic-myeloproliferative-disorders
#5
Fusun Gediz Ozdemirkiran, Sinem Nalbantoglu, Zafer Gokgoz, Bahriye Kadriye Payzin, Filiz Vural, Seckin Cagirgan, Afig Berdeli
INTRODUCTION: Chronic myeloproliferative disorders (CMPD) are chronic myeloid hematological disorders, characterized by increased myeloid cell proliferation and fibrosis. Impaired apoptotic mechanisms, increased cell proliferation, uncontrolled hematopoietic cell proliferation and myeloaccumulation may contribute to the pathogenesis of CMPD. The aim of our study was to show the possible role of FAS/FASL gene polymorphisms in CMPD pathogenesis and investigate the association with clinical parameters and susceptibility to disease...
March 1, 2017: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/28260027/pstat5-and-erk-exhibit-different-expression-in-myeloproliferative-neoplasms
#6
Ewa Wiśniewska-Chudy, Łukasz Szylberg, Grzegorz Dworacki, Ewa Mizera-Nyczak, Andrzej Marszałek
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic progenitor cell disorders characterized by the proliferation of one or more hematopoietic lineages. The classical MPNs include polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) entities. These disorders are characterized by bone marrow morphology typical for each disease, and by the presence of JAK2V617F mutation in the marrow and blood. However, JAK2V617F cannot account for the phenotypic heterogeneity of MPNs because approximately half of all cases of ET and PMF show no evidence of this molecular marker...
February 24, 2017: Oncology Reports
https://www.readbyqxmd.com/read/28259826/medical-management-of-extensive-arterial-thromboembolism-in-a-patient-with-essential-thrombocythemia-and-warfarin-failure
#7
Aisha K Ahmed, Alicia Youssef, Nedaa Skeik
Chronic myeloproliferative disorders (CMPD) share a stem cell-derived clonal myeloproliferation. This group of disorders includes essential thrombocythemia (ET), polycythemia vera (PV), chronic myeloid leukemia (CML), and primary myelofibrosis (PMF), with the respective features of thrombocytosis, erythrocytosis, and bone marrow fibrosis(1). These disorders can be associated with genetic mutations affecting protein tyrosine kinases, resulting in different configurations of abnormal signal transduction. The Janus tyrosine kinase 2 (JAK2) mutation can be used as a key diagnostic tool for diagnosing MPDs, specifically, ET, PV, and PMF(2)...
March 1, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28259746/acute-myeloid-leukemia-in-a-patient-with-thrombocytopenia-with-absent-radii-a-case-report-and-review-of-the-literature
#8
Maximilian Jameson-Lee, Katherine Chen, Ellen Ritchie, Tsiporah Shore, Omar Al-Khattab, Usama Gergis
Thrombocytopenia with absent radii (TAR) syndrome is a rare congenital disorder characterized by low platelet counts of various severity, bilateral absent radii but thumbs are usually present. TAR syndrome is not generally associated with bone marrow failure or malignancy. Janus kinase-2, myeloproliferative leukemia protein, and calreticulin are not mutated in TAR patients. Only four cases of leukemia were reported in TAR patients in the literature: three acute myeloid leukemia (AML) and one acute lymphoblastic leukemia...
February 24, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28252631/-myeloproliferative-masks-of-multiple-myeloma-a-review-of-literature-and-clinical-case-reports
#9
V V Ryzhko, A E Grachev, A A Klodzinsky, T V Ivanova, M S Sataeva, E O Gribanova
Concurrences of multiple myeloma with myeloproliferative diseases or secondary myeloid leukemoid reactions are rather rare. The paper describes 3 cases of multiple myeloma: the first case concurrent with neutrophilic leukocytosis; the second case with secondary erythropoetin-dependent erythrocytosis, and the third case with chronic myeloid leukemia. In such cases, an accurate diagnosis requires molecular testing, besides routine clinical and laboratory studies. The paper discusses therapeutic strategy in cases of a concurrence of 2 competing tumors of the blood system: to treat them simultaneously or the most aggressive tumor now, as well as a relationship between multiple myeloma and chronic myeloid leukemia, other myeloproliferative disorders, and secondary myeloid leukemoid reactions...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28246554/splanchnic-vein-thrombosis-in-myeloproliferative-neoplasms-pathophysiology-and-molecular-mechanisms-of-disease
#10
REVIEW
Joan How, Amy Zhou, Stephen T Oh
Myeloproliferative neoplasms (MPNs) are the most common underlying prothrombotic disorder found in patients with splanchnic vein thrombosis (SVT). Clinical risk factors for MPN-associated SVTs include younger age, female sex, concomitant hypercoagulable disorders, and the JAK2 V617F mutation. These risk factors are distinct from those associated with arterial or deep venous thrombosis (DVT) in MPN patients, suggesting disparate disease mechanisms. The pathophysiology of SVT is thought to derive from local interactions between activated blood cells and the unique splanchnic endothelial environment...
March 2017: Therapeutic Advances in Hematology
https://www.readbyqxmd.com/read/28228434/sagittal-sinus-thrombosis-in-jak2-v617f-mutation-without-overt-myeloproliferative-disorder
#11
Prashant Ramesh Bhand, Supriya Ramesh Karde, Nagabathula Ramesh
We describe a case of a man aged 41 years who presented with a history of generalised headaches for 1 week and an acute episode of tonic-clonic seizures. He had no history of medical illness, was non-smoker, with an extensive family history of haematological disorders. Initial CT brain with contrast did not show any abnormalities in brain parenchyma. X-ray and CT right shoulder showed shoulder dislocation secondary to trauma associated with seizure prior to hospital admission. Subsequently, MRA and MRV brain was arranged, which revealed extensive expansible occlusive filling defect dominating the middle of superior sagittal sinus with left frontal cortical and subcortical acute oedema...
February 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28219560/a-novel-approach-to-essential-thrombocythemia-and-cardiac-surgery
#12
Bradford B Smith, Gregory A Nuttall, Rajiv K Pruthi, David L Joyce, Matthew S Schuldes, Mark M Smith
Essential thrombocythemia (ET) is a myeloproliferative disorder characterized by persistent thrombocytosis (>450 × 10(9)/L). Patients with ET are at risk for thrombotic or hemorrhagic complications especially during cardiovascular operations. We discuss a patient with ET requiring coronary artery bypass grafting with a presenting platelet count of 1631 × 10(9)/L. Platelet reduction with an intraoperative autologous transfusion technique decreased the platelet count to 758 × 10(9)/L before initiation of cardiopulmonary bypass...
March 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28205462/atypical-chronic-myeloid-leukemia-in-a-german-shepherd-dog
#13
Christina L Marino, Jimmy N S N Tran, Tracy Stokol
A 4-y-old neutered male German Shepherd Dog was presented with a 3-d duration of lethargy, restlessness, and vomiting. Physical examination revealed generalized lymphadenopathy, pale mucous membranes, systolic heart murmur, dehydration, and fever. Hematologic abnormalities included moderate-to-marked leukocytosis, characterized by neutrophilia with a left shift to progranulocytes and 2% presumptive myeloid blasts, marked anemia that was nonregenerative, and marked thrombocytopenia. Dysplasia was evident in neutrophils and platelets...
February 1, 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/28185911/transcriptome-analysis-of-monozygotic-twin-brothers-with-childhood-primary-myelofibrosis
#14
Nan Ding, Zhaojun Zhang, Wenyu Yang, Lan Ren, Yingchi Zhang, Jingliao Zhang, Zhanqi Li, Peihong Zhang, Xiaofan Zhu, Xiaojuan Chen, Xiangdong Fang
Primary myelofibrosis (PMF) is a chronic myeloproliferative disorder in human bone marrow. Over 50% of patients with myelofibrosis have mutations in JAK2, MPL, or CALR. However, these mutations are rarely detected in children, suggesting a difference in the pathogenesis of childhood PMF. In this study, we investigated the response to drug treatment of a monozygotic twin pair with typical childhood PMF. The twin exhibited different clinical outcomes despite following the same treatment regimen. The transcriptomic profiles of patient samples after drug treatment (E2 and Y2) were significantly different between the twin pair, which is consistent with the observation that the drug treatment was effective only in the younger brother, despite the twin being genetically identical...
February 2017: Genomics, Proteomics & Bioinformatics
https://www.readbyqxmd.com/read/28182037/janus-kinase-2-mutations-in-cases-with-bcr-abl-negative-chronic-myeloproliferative-disorders-from-turkey
#15
Ismail Yildiz, Osman Yokuş, Habip Gedik
OBJECTIVE: We aimed to investigate the frequency of Janus kinase 2 (JAK2) mutations in cases with chronic myeloproliferative disorders (CMDs), and the relationship between the presence of JAK2 mutation and leukocytosis and splenomegaly, retrospectively. MATERIALS AND METHODS: Patients, who were diagnosed with BCR-ABL-negative CMDs according to diagnosis criteria of the World Health Organization and followed up at the hematology clinic between 2013 and 2015, were investigated in terms of the frequency of JAK2 mutation in cases with CMDs, and the relationship between the presence of JAK2 mutation and leukocytosis and splenomegaly, retrospectively...
January 2017: Avicenna Journal of Medicine
https://www.readbyqxmd.com/read/28179280/gata-factor-mutations-in-hematologic-disease
#16
John D Crispino, Marshall S Horwitz
GATA family proteins play essential roles in development of many cell types, including hematopoietic, cardiac, and endodermal lineages. The first three factors, GATAs 1,2 and 3, are essential for normal hematopoiesis, and their mutations are responsible for a variety of blood disorders. Acquired and inherited GATA1 mutations contribute to Diamond Blackfan anemia, acute megakaryoblastic leukemia, transient myeloproliferative disorder and a group of related congenital dyserythropoietic anemias with thrombocytopenia...
February 8, 2017: Blood
https://www.readbyqxmd.com/read/28167129/jak-stat-signaling-in-the-therapeutic-landscape-of-myeloproliferative-neoplasms
#17
Jennifer M O'Sullivan, Claire N Harrison
Myeloproliferative neoplasms (MPN) are a group of disorders defined by clonal proliferation of mature myeloid cells with overlapping clinical features. The driver mutations of these disorders, namely JAK2 (Janus Kinase), MPL (Myeloproliferative Leukaemia Virus) and CALR (Calreticulin) upregulate JAK-STAT signaling with increase in downstream transcription and gene expression. Epigenetic mutations are prevalent in MPNs but their interplay with aberrant JAK-STAT signaling is not known. This understanding lead to development of first targeted treatment in MPN; ruxolitinib for primary myelofibrosis...
February 3, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28148580/myocardial-infarction-with-proximal-occlusion-of-the-left-anterior-descending-coronary-artery-in-a-22-year-old-patient-with-polycythaemia-vera
#18
Alexander Nahler, David Fuchs, Christian Reiter, Daniel Kiblböck, Clemens Steinwender, Thomas Lambert
In this article, we report on a 22-year-old patient with myocardial infarction, which was the initial manifestation of polycythaemia vera. The awareness of myeloproliferative disorders as possible underlying disease - especially in young patients presenting with myocardial infarction - is crucial for clinical management, as a missed diagnosis can worsen the patient's further prognosis.
February 2017: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/28145579/spontaneous-mediastinal-myeloid-sarcoma-in-a-common-marmoset-callithrix-jacchus-and-review-of-the-veterinary-literature
#19
REVIEW
Danielle T Morosco, Curtis R Cline, Michael A Owston, Shyamesh Kumar, Edward J Dick
BACKGROUND: Myeloid sarcoma is a rare manifestation of myeloproliferative disorder defined as an extramedullary mass composed of myeloid precursor cells. A 9-month old, female, common marmoset (Callithrix jacchus) had increased respiratory effort. METHODS: A complete necropsy with histology and immunohistochemistry was performed. RESULTS: The thymus was replaced by a firm, gray-tan mass with a faint green tint, filling over 50% of the thoracic cavity...
April 2017: Journal of Medical Primatology
https://www.readbyqxmd.com/read/28143387/development-of-a-predictive-pharmacophore-model-and-a-3d-qsar-study-for-an-in-silico-screening-of-new-potent-bcr-abl-kinase-inhibitors
#20
Eleni Vrontaki, Georgia Melagraki, Stella Voskou, Marios S Phylactides, Thomas Mavromoustakos, Marina Kleanthous, Antreas Afantitis
Chronic myelogenous leukemia (CML) is a myeloproliferative disorder, characterized, in most cases, by the presence of the Bcr-Abl fusion oncogene. Bcr-Abl is a constitutively active tyrosine kinase that is responsible for the malignant transformation. Targeting the Bcr-Abl kinase is an attractive treatment strategy for CML. First and second generation Bcr-Abl inhibitors have focused on targeting the ATP-binding domain of the kinase. Mutations in that region are relatively resistant to drug manipulation. Therefore, non-ATP-competitive agents have been recently developed and tested...
2017: Mini Reviews in Medicinal Chemistry
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